Incidental Mutation 'R3937:Jmjd6'
| ID |
307238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jmjd6
|
| Ensembl Gene |
ENSMUSG00000056962 |
| Gene Name |
jumonji domain containing 6 |
| Synonyms |
5730436I23Rik, Ptdsr, PSR, PtdSerR |
| MMRRC Submission |
040921-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3937 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116728258-116734275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116731991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 237
(N237D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047616]
[ENSMUST00000106370]
[ENSMUST00000140349]
[ENSMUST00000140513]
[ENSMUST00000142495]
|
| AlphaFold |
Q9ERI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047616
AA Change: N237D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047570
Gene: ENSMUSG00000056962
AA Change: N237D
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
141 |
305 |
6.09e-48 |
SMART |
|
low complexity region
|
340 |
369 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106370
|
| SMART Domains |
Protein: ENSMUSP00000101978
Gene: ENSMUSG00000090266
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:Methyltransf_16
|
48 |
203 |
9.9e-20 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124831
AA Change: N29D
|
| SMART Domains |
Protein: ENSMUSP00000122867
Gene: ENSMUSG00000056962
AA Change: N29D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JmjC
|
1 |
81 |
6.3e-20 |
PFAM |
|
low complexity region
|
150 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132593
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140349
AA Change: N189D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120850
Gene: ENSMUSG00000056962
AA Change: N189D
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
93 |
257 |
6.09e-48 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140513
AA Change: N194D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115086
Gene: ENSMUSG00000056962
AA Change: N194D
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
98 |
262 |
6.09e-48 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142495
AA Change: N237D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117922
Gene: ENSMUSG00000056962
AA Change: N237D
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
141 |
270 |
4.17e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184052
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176799
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140869
|
| Meta Mutation Damage Score |
0.1080 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein functions in differentiation of multiple tissues during development, and in anti-inflammatory cytokine signaling. It was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that this protein does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene show perinatal lethality. Abnormalities are observed in the nervous. respiratory, cardiovascular, digestive, renal, hematopoietic, and immune systems. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
G |
4: 148,026,510 (GRCm39) |
S343R |
possibly damaging |
Het |
| Abca8b |
G |
T |
11: 109,865,393 (GRCm39) |
P355T |
probably benign |
Het |
| Abhd15 |
T |
C |
11: 77,406,764 (GRCm39) |
V247A |
probably benign |
Het |
| Adamts1 |
C |
T |
16: 85,592,507 (GRCm39) |
V634M |
possibly damaging |
Het |
| BC049715 |
T |
C |
6: 136,817,453 (GRCm39) |
I231T |
possibly damaging |
Het |
| Chpf |
A |
T |
1: 75,454,184 (GRCm39) |
V198E |
probably damaging |
Het |
| Cp |
C |
T |
3: 20,025,198 (GRCm39) |
P386S |
probably damaging |
Het |
| Cth |
A |
G |
3: 157,625,677 (GRCm39) |
I107T |
possibly damaging |
Het |
| Ctrc |
T |
C |
4: 141,567,632 (GRCm39) |
D157G |
probably damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,042,280 (GRCm39) |
Y889H |
probably damaging |
Het |
| Elavl3 |
A |
G |
9: 21,930,040 (GRCm39) |
V288A |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,218,245 (GRCm39) |
I130K |
probably benign |
Het |
| F13a1 |
A |
T |
13: 37,100,875 (GRCm39) |
V423D |
probably damaging |
Het |
| Faf1 |
T |
C |
4: 109,614,889 (GRCm39) |
|
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,968,980 (GRCm39) |
D31E |
probably benign |
Het |
| Fastkd2 |
A |
G |
1: 63,776,995 (GRCm39) |
D377G |
possibly damaging |
Het |
| Fbxl6 |
G |
A |
15: 76,420,824 (GRCm39) |
R384* |
probably null |
Het |
| Fcamr |
A |
T |
1: 130,732,313 (GRCm39) |
H44L |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,223,818 (GRCm39) |
N1055D |
probably benign |
Het |
| Garem1 |
A |
T |
18: 21,281,863 (GRCm39) |
Y164* |
probably null |
Het |
| Gemin4 |
C |
T |
11: 76,103,714 (GRCm39) |
C349Y |
probably damaging |
Het |
| Gnal |
A |
G |
18: 67,268,441 (GRCm39) |
|
probably null |
Het |
| Hacl1 |
T |
C |
14: 31,356,148 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
T |
C |
4: 116,855,727 (GRCm39) |
V409A |
probably benign |
Het |
| Hps6 |
A |
G |
19: 45,992,492 (GRCm39) |
E143G |
probably damaging |
Het |
| Hspa4 |
T |
A |
11: 53,161,776 (GRCm39) |
I459L |
probably benign |
Het |
| Ighv3-6 |
G |
A |
12: 114,252,061 (GRCm39) |
Q21* |
probably null |
Het |
| Ints3 |
G |
A |
3: 90,311,294 (GRCm39) |
R438* |
probably null |
Het |
| Lrrk2 |
C |
A |
15: 91,662,707 (GRCm39) |
T1912K |
probably damaging |
Het |
| Mdga2 |
C |
A |
12: 67,267,980 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,200,512 (GRCm39) |
D203G |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,849,108 (GRCm39) |
S1116P |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,607,357 (GRCm39) |
D704V |
probably benign |
Het |
| Nes |
A |
T |
3: 87,878,543 (GRCm39) |
M12L |
probably benign |
Het |
| Or10ak7 |
T |
C |
4: 118,791,880 (GRCm39) |
D53G |
probably damaging |
Het |
| Or10al2 |
A |
G |
17: 37,983,858 (GRCm39) |
T315A |
probably benign |
Het |
| Or2f1 |
T |
A |
6: 42,721,010 (GRCm39) |
I13N |
probably damaging |
Het |
| Or5j3 |
T |
A |
2: 86,128,360 (GRCm39) |
S67T |
probably damaging |
Het |
| Pcdha2 |
T |
C |
18: 37,074,376 (GRCm39) |
V669A |
probably benign |
Het |
| Pdhx |
T |
C |
2: 102,852,564 (GRCm39) |
N433S |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,469,124 (GRCm39) |
R261G |
probably damaging |
Het |
| Plekhj1 |
A |
G |
10: 80,633,609 (GRCm39) |
I76T |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,073 (GRCm39) |
S614T |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,501,615 (GRCm39) |
N1207S |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,312,294 (GRCm39) |
F1005L |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,301,241 (GRCm39) |
E324G |
probably damaging |
Het |
| Sema6d |
A |
T |
2: 124,498,770 (GRCm39) |
I227L |
probably benign |
Het |
| Smarcad1 |
T |
G |
6: 65,091,320 (GRCm39) |
L1014V |
probably damaging |
Het |
| Spag9 |
T |
G |
11: 93,935,305 (GRCm39) |
S39A |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,935,243 (GRCm39) |
V18A |
possibly damaging |
Het |
| Sun2 |
T |
C |
15: 79,618,356 (GRCm39) |
K268E |
probably benign |
Het |
| Tbpl2 |
C |
T |
2: 23,977,151 (GRCm39) |
R289Q |
probably benign |
Het |
| Tcea3 |
T |
A |
4: 135,982,454 (GRCm39) |
|
probably benign |
Het |
| Tmem185a |
C |
T |
X: 69,505,792 (GRCm39) |
|
probably null |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Vmn1r212 |
A |
T |
13: 23,067,358 (GRCm39) |
V325E |
unknown |
Het |
| Vmn1r35 |
T |
A |
6: 66,656,057 (GRCm39) |
R204S |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,077,554 (GRCm39) |
M204T |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,092,105 (GRCm39) |
Y411* |
probably null |
Het |
| Zfp335 |
G |
T |
2: 164,752,620 (GRCm39) |
D41E |
probably damaging |
Het |
|
| Other mutations in Jmjd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Jmjd6
|
APN |
11 |
116,733,202 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01877:Jmjd6
|
APN |
11 |
116,733,519 (GRCm39) |
missense |
probably benign |
|
|
IGL01941:Jmjd6
|
APN |
11 |
116,732,184 (GRCm39) |
splice site |
probably null |
|
|
IGL02316:Jmjd6
|
APN |
11 |
116,733,928 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03396:Jmjd6
|
APN |
11 |
116,732,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
jumanji
|
UTSW |
11 |
116,733,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Jmjd6
|
UTSW |
11 |
116,731,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Jmjd6
|
UTSW |
11 |
116,733,266 (GRCm39) |
missense |
probably benign |
|
|
R2259:Jmjd6
|
UTSW |
11 |
116,732,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4284:Jmjd6
|
UTSW |
11 |
116,733,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5534:Jmjd6
|
UTSW |
11 |
116,731,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5881:Jmjd6
|
UTSW |
11 |
116,730,682 (GRCm39) |
nonsense |
probably null |
|
|
R6546:Jmjd6
|
UTSW |
11 |
116,733,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7468:Jmjd6
|
UTSW |
11 |
116,733,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7940:Jmjd6
|
UTSW |
11 |
116,734,055 (GRCm39) |
start gained |
probably benign |
|
|
R9370:Jmjd6
|
UTSW |
11 |
116,729,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9790:Jmjd6
|
UTSW |
11 |
116,733,438 (GRCm39) |
missense |
probably benign |
|
|
R9791:Jmjd6
|
UTSW |
11 |
116,733,438 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGGCCCTTCTGTCTCATTC -3'
(R):5'- ATGCTTGCATCCTGTAGGTG -3'
Sequencing Primer
(F):5'- TTCTACTCCAAAATGGCAATACAGG -3'
(R):5'- TTGTGATGGGGCCACCG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation